combined oxidative phosphorylation deficiency type 3

combined oxidative phosphorylation deficiency type 3

An extremely rare autosomal recessive multisystem disorder (MIM:610505) caused by defects in the mitochondrial oxidative phosphorylation due to protein mistranslation, leading to a failure to assemble adequate amounts of three oxidative phosphorylation complexes.

Molecular pathology
Defects of TSFM, which encodes a mitochondrial translation elongation factor, cause combined oxidative phosphorylation deficiency 3.
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